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1دورية أكاديمية
المؤلفون: Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
مصطلحات موضوعية: ALPL, carrier screening, genetic testing, hypophosphatasia, incidental diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المؤلفون: Ebba, Alkhunaizi, Nicole, Martin, Angie C, Jelin, Mara, Rosner, Diana J, Bailey, Laurie A, Steiner, Saquib, Lakhani, Weizhen, Ji, Philip J, Katzman, Katherine R, Forster, Olga, Jarinova, Patrick, Shannon, David, Chitayat
المصدر: American Journal of Medical Genetics Part A. 191:760-769
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Kristen A. Miller, Katelynn G. Sagaser, Christine B. Hertenstein, Karin J. Blakemore, Katherine R. Forster, Cathleen S. Lawson, Angie C. Jelin
المصدر: Journal of Ultrasound in Medicine.
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المؤلفون: Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong
المصدر: Molecular geneticsgenomic medicineREFERENCES.
مصطلحات موضوعية: Genetics, Molecular Biology, Genetics (clinical)
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المؤلفون: Teresa N. Sparks, Jena L. Miller, Benjamin D. Solomon, Nara Sobreira, Angie C. Jelin, David Valle, Katherine R. Forster, Karin J. Blakemore, Elizabeth Wohler, Katelynn G. Sagaser, P. Dane Witmer, Ada Hamosh
المصدر: Prenat Diagn
مصطلحات موضوعية: 0301 basic medicine, Proband, Candidate gene, Pathology, medicine.medical_specialty, Receptor, EphB4, Genomics, 030105 genetics & heredity, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Exome Sequencing, Humans, Medicine, Actinin, Lymphedema, Prospective Studies, Prospective cohort study, Pathological, Genetics (clinical), Exome sequencing, Extracellular Matrix Proteins, Eyelashes, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, Forkhead Transcription Factors, Ryanodine Receptor Calcium Release Channel, Karyotype, Pleural Effusion, Fetal Diseases, Etiology, Female, business, Cell Adhesion Molecules
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المؤلفون: Ahmet Baschat, Jody E. Hooper, Julie Hoover-Fong, Karin J. Blakemore, Katherine R. Forster
المصدر: American Journal of Medical Genetics Part A. 179:2490-2493
مصطلحات موضوعية: Adult, Joint Instability, 0301 basic medicine, Candidate gene, Pathology, medicine.medical_specialty, Dwarfism, Prenatal diagnosis, Single-nucleotide polymorphism, Consanguinity, 030105 genetics & heredity, Polymorphism, Single Nucleotide, Craniofacial Abnormalities, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Ossification, Heterotopic, Homozygote, medicine.disease, Radiography, Polydactyly, Phenotype, 030104 developmental biology, Polysyndactyly, Mutation, Female, Autopsy, business, SNP array
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المؤلفون: Julie Hoover-Fong, Shannon Trebes, Karin J. Blakemore, Melissa L. Russo, Angie C. Jelin, Katherine R. Forster, Katelynn G. Sagaser
المصدر: J Matern Fetal Neonatal Med
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030105 genetics & heredity, Osteochondrodysplasias, Article, Ultrasonography, Prenatal, 03 medical and health sciences, Prenatal ultrasound, Fetus, Pregnancy, Prenatal Diagnosis, medicine, Humans, Retrospective Studies, Bone Diseases, Developmental, Obstetrics, business.industry, Obstetrics and Gynecology, medicine.disease, humanities, body regions, 030104 developmental biology, Molecular Diagnostic Techniques, Dysplasia, embryonic structures, Pediatrics, Perinatology and Child Health, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3056c8141f7d4c305460788da1ccf74
https://europepmc.org/articles/PMC7858696/ -
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المؤلفون: Tochi Ibekwe, Katelynn G. Sagaser, Mary E. Norton, Angie C. Jelin, Katherine R. Forster, Eric B. Jelin
المصدر: Prenat Diagn
مصطلحات موضوعية: 0301 basic medicine, Lung Diseases, Pediatrics, medicine.medical_specialty, Palliative care, Urethral Obstruction, medicine.medical_treatment, 030105 genetics & heredity, Kidney, Oligohydramnios, Ultrasonography, Prenatal, Article, Congenital Abnormalities, Amnioinfusion, 03 medical and health sciences, Cystic kidney disease, Pulmonary hypoplasia, 0302 clinical medicine, Pregnancy, medicine, Humans, Respiratory function, Abnormalities, Multiple, Infusions, Parenteral, Renal Insufficiency, Lung, Genetics (clinical), Clinical Trials as Topic, 030219 obstetrics & reproductive medicine, business.industry, Palliative Care, Obstetrics and Gynecology, Abortion, Induced, Kidney Diseases, Cystic, medicine.disease, Amniotic Fluid, Bilateral Renal Agenesis, Female, Kidney Diseases, Urinary tract obstruction, business, Ureteral Obstruction